- accession:NM_001079802
- 基因别名:FKTN
- 基因描述:Homo sapiens fukutin (FKTN), transcript variant 1, mRNA.
- 载体:现货载体
- CDS区长度:1386
- 翻译后氨基酸长度:461
- TranscriptVariant:This variant (1) represents the longest transcript and encodes the longer protein (a). Variants 1 and 2 encode the same isoform (a).
- 基因简介:The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]
- 载体信息:自有图片地址
- 规格:10ul 质粒
CDS区参考序列: 点击查看序列翻译后氨基酸参数序列: 点击查看序列